rs727504926
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_176795.5(HRAS):c.451-11C>T variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,455,608 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_176795.5 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HRAS | NM_005343.4 | c.450+84C>T | intron_variant | ENST00000311189.8 | |||
HRAS | NM_176795.5 | c.451-11C>T | splice_polypyrimidine_tract_variant, intron_variant | ENST00000417302.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HRAS | ENST00000311189.8 | c.450+84C>T | intron_variant | 1 | NM_005343.4 | P1 | |||
HRAS | ENST00000417302.7 | c.451-11C>T | splice_polypyrimidine_tract_variant, intron_variant | 5 | NM_176795.5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000411 AC: 1AN: 243056Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132912
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1455608Hom.: 0 Cov.: 34 AF XY: 0.00000276 AC XY: 2AN XY: 724468
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at